Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154106A>C , CM000681.2:g.55154106A>C | GRCh38 |
| NC_000019.9:g.55665474A>C , CM000681.1:g.55665474A>C | GRCh37 |
| NC_000019.8:g.60357286A>C | NCBI36 |
| NG_007866.2:g.8627T>G , LRG_432:g.8627T>G | |
| NG_011829.2:g.133T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.473T>G MANE Select | ENSP00000341838.5:p.Leu158Arg | |
| ENST00000665070.1:c.506T>G | ENSP00000499482.1:p.Leu169Arg | |
| ENST00000344887.9:c.473T>G | ENSP00000341838.5:p.Leu158Arg | |
| ENST00000585806.5:n.472T>G | ||
| ENST00000588882.1:c.398T>G | ENSP00000466729.1:p.Leu133Arg | |
| ENST00000589864.1:n.301T>G | ||
| NM_000363.4:c.473T>G , LRG_432t1:c.473T>G | NP_000354.4:p.Leu158Arg | |
| NM_000363.5:c.473T>G MANE Select | NP_000354.4:p.Leu158Arg |